Paralogue Annotation for SCN5A residue 863

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 863
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 863

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AG638DEpisodic ataxia 2Medium9 19232643
SCN2AK905NEpileptic encephalopathyHigh9 23708187

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<NYSEL-RDS----D-SG---LLPRWHMMDF884
SCN1AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<SYKDC-VCK----I-AS-DCQLPRWHMNDF937
SCN2AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<SYKEC-VCK----I-SN-DCELPRWHMHDF928
SCN3AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<SYKEC-VCK----I-ND-DCTLPRWHMNDF929
SCN4AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<SYKEC-VCK----I-AL-DCNLPRWHMHDF747
SCN7ASNSWVALKDLVLLLFTFIFFSAAFGMKLFG>K<NYEEF-VCH----I-DK-DCQLPRWHMHDF674
SCN8AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<SYKEC-VCK----I-NQ-DCELPRWHMHDF922
SCN9AGNSVGALGNLTLVLAIIVFIFAVVGMQLFG>K<SYKEC-VCK----I-ND-DCTLPRWHMNDF902
SCN10AGNSVGALGNLTIILAIIVFVFALVGKQLLG>E<NYRNN-RKN----I-SAPHEDWPRWHMHDF835
SCN11AGNSVGALGSLTVVLVIVIFIFSVVGMQLFG>R<SFNSQ-KSPKLCNPTGPTVSCLRHWHMGDF754
CACNA1ALNSMKSIISLLFLLFLFIVVFALLGMQLFG>G<QFNFD-E------------G-TPPTNFDTF654
CACNA1BLNSMKSIISLLFLLFLFIVVFALLGMQLFG>G<QFNFQ-D------------E-TPTTNFDTF650
CACNA1CLNSVRSIASLLLLLFLFIIIFSLLGMQLFG>G<KFNFD-E------------MQTRRSTFDNF692
CACNA1DLNSMKSIASLLLLLFLFIIIFSLLGMQLFG>G<KFNFD-E------------TQTKRSTFDNF711
CACNA1EMSSMKSIISLLFLLFLFIVVFALLGMQLFG>G<RFNFN-D------------G-TPSANFDTF643
CACNA1FLNSMKSIASLLLLLFLFIIIFSLLGMQLFG>G<KFNFD-Q------------THTKRSTFDTF697
CACNA1GMKTMDNVATFCMLLMLFIFIFSILGMHLFG>C<KFASER---------DG-DTLPDRKNFDSL909
CACNA1HVKTMDNVATFCTLLMLFIFIFSILGMHLFG>C<KFSLKTD--------TG-DTVPDRKNFDSL960
CACNA1IMKTMDNVATFCMLLMLFIFIFSILGMHIFG>C<KFSLRTD--------TG-DTVPDRKNFDSL807
CACNA1SLNSIRSIASLLLLLFLFIVIFALLGMQLFG>G<RYDFE-D------------TEVRRSNFDNF600
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 863 for SCN5A.